Contents
Definition
Autosomal hereditary storage disease with too low production of the enzyme active lysosomal acid lipase.
Symptoms
- From the first year of life
- Big belly
- Indigestion
- Lack of weight gain
- Lack of growth
- Yellow-colored skin
- Milder cases
- Diagnosed among young adults
- Heart disease
- Liver failure
- Stroke
Examinations
- Large liver and liver failure
- Anemia (low hemoglobin level)
- High cholesterol
Treatment
- Sebelipase alfa replaces lack of enzyme
Prevention
- Prenatal fetus diagnosis is possible
- Genetic counseling (25% risk of sibling getting sick)
Literature
This page has had 1 visits today